A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4076



Internal ID9966491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:52936986..53195419hg38UCSC Ensembl
Innerchr17:51014346..51272780hg19UCSC Ensembl
Innerchr17:48369345..48627779hg18UCSC Ensembl
Innerchr17:48369345..48627779hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38258434
hg19258435
hg18258435
hg17258435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758460
Supporting Variants
SamplesNA18635
Known GenesC17orf112
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv4076
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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